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Excel in Rare Diseases’ Research: Focus on LYSOsomal Disorders and CILiopathies

Periodic Reporting for period 1 - LYSOCIL (Excel in Rare Diseases’ Research: Focus on LYSOsomal Disorders and CILiopathies)

Reporting period: 2018-11-01 to 2020-01-31

The overall aim of LYSOCIL is to strengthen the research and innovation capacity of the Chronic Diseases Research Center of NOVA Medical School (UNL-NMS-CEDOC) and capacitating it to become a national and internationally recognized Center of Excellence in Chronic Rare Diseases (RDs) research and innovation. RDs represent a big challenge for biomedical research and health care, the patients and their families due to the high diversity, low numbers and scattered distribution of patients affected. International cooperation is paramount to understand the etiology and find better diagnostic methods for RDs. LYSOCIL addresses that need through a scientific strategy to reinforce research and innovation excellence in the study of lysosomal diseases and ciliopathies.

Towards this goal, UNL-NMS-CEDOC is twinning with two internationally leading research institutions, Münster University (WWU) in Germany and the Telethon Institute of Genetics and Medicine (TIGEM - FTELE.IGM) in Italy. LYSOCIL will leverage on WWU and TIGEM’s outstanding multidisciplinary knowledge and experience, research and training best practices, as well as collaborative networks to enhance the research capacity and innovation potential of UNL-NMS-CEDOC. LYSOCIL consists in an integrated network of interactions (exchange and training of researchers, satellite meetings, winter retreats, virtual think tanks, etc.) to power the research capacity of UNL-NMS-CEDOC and its local and national ecosystems.

Stimulating novel and long-lasting interactions between UNL-NMS-CEDOC, WWU and TIGEM (FTELE.IGM) will unlock the research potential within and outside UNL-NMS-CEDOC, with an overall increase in the Portuguese and European RD research competitiveness.
"LYSOCIL is committed to promoting networking initiatives to increase UNL-NMS-CEDOC visibility through the development of collaborations amongst research groups of the consortium.

Regarding the first reporting period, we have organized the following activities:

• LYSOCIL Kick-off Meeting – held from 3rd to 4th December 2018 and officially launched the project by bringing together members of the partnering institutions to discuss its implementation.

• Staff Exchanges (SE) - the first SEs started on July 2019 and during the first report period of the project's implementation, there were four SEs with 13 researchers and staff members involved. The SE “Research funding offices capacity building” was held on 2nd-3rd July 2019 at WWU; the SE ""Training on Induced pluripotent stem cell (iPSC)"" was held from 9th to 27th July 2019 at WWU; the SE ""Training in Immunostainings at Heymut Omran’s lab"" was held from 9th to 16th July 2019 at WWU and the SE “Training on the analysis of lysosome morphological changes” was held from 3rd to 16th November 2019 at TIGEM.

• Workshops - the “Workshop on Outreach & Fundraising” (27th-28th June 2019) and the “Workshop on Lysosome Biology” (9th-11th September 2019) were two major events that highly benefited the scientific excellence and research capacity of UNL-NMS-CEDOC.

• Winter Retreat - the first LYSOCIL Winter Retreat was held from 16th to 19th January 2020 and it was especially catered to the LYSOCIL project’s Group Leaders. This event aimed to share the latest discoveries and discuss state of the art themes regarding lysosomal diseases and ciliopathies by promoting translational research.

• Communication and Dissemination – communication and dissemination activities efforts are being made to raise awareness towards the LYSOCIL project through the development of a corporate image, website page ( flyer, promotional communication package, social media and events."
LYSOCIL aims to be at the forefront of European and international scientific excellence in chronic RDs research. This is being achieved by promoting an integrated network of collaborations between the LYSOCIL partners, such as SEs, summer school, winter retreats, and training workshops. Through the LYSOCIL network, UNL-NMS-CEDOC aims to strengthen its research and innovation capacity by enhancing the biomedical, translational and clinical research in rare chronic diseases, to foster the expertise on drug screening, diagnostics and gene therapy, allowing a better understanding of lysosomal disorders and ciliopathies and helping to devise new therapies.

By setting up a collaborating network with TIGEM and WWU that is stimulating the exchange of scientific knowledge and technological expertise, as well as facilities and scientific platforms within the consortium, LYSOCIL is having a direct impact on the enhancement of UNL-NMS-CEDOC research excellence.

The networking activities and collaborative exchanges are designed to maximise the impact of LYSOCIL in the scientific capacity and excellence of UNL-NMS-CEDOC researchers, increasing their participation in European networks of excellence and generating long-lasting collaborations between the different partners. For UNL-NMS-CEDOC, the expected impact is the increasing of research excellence with a particular focus on lysosomal diseases and ciliopathies research fields, by promoting collaborations with partner institutions, patient associations, regional and national scientific community; and by improving the scientific and technical capacity through the project’s activities. This will also lead to an international exposure, increasing the success rate in national and international competitive funding calls through intensified collaborative efforts.

Through the LYSOCIL’s local, national and international activities, this collaborative initiative will have a wide impact in the Lisbon, Portuguese and European scientific communities in chronic RDs research. LYSOCIL will also have a long-term societal impact, raising the quality and outreach of UNL-NMS-CEDOC research. Thus, LYSOCIL aims to create a significant improvement in the UNL-NMS-CEDOC scientific and innovation capacity, which can only be achieved by long-term engagement of the current networking activities that will foster a lively and dynamic environment between the LYSOCIL partners.
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